Carnitine palmitoyltransferase II deficiency, lethal neonatal - CISMeF
Carnitine palmitoyltransferase II deficiency, lethal neonatalOMIM Phenotype
Preferred Label : Carnitine palmitoyltransferase II deficiency, lethal neonatal;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Carnitine palmitoyltransferase II deficiency, neonatal; Cpt2 deficiency, lethal neonatal; Cpt II deficiency, lethal neonatal; Carnitine palmitoyltransferase II deficiency, antenatal;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the carnitine palmitoyltransferase II gene (CPT2, 600650.0009);
Laboratory abnormalities : Increased liver function tests; Increased plasma long-chain acylcarnitines; Increased tissue long-chain acylcarnitines; Decreased plasma total and free carnitine; Decreased tissue total and free carnitine; Increased serum long-chain fatty acids; Increased tissue long-chain fatty acids; Long-chain dicarboxylic aciduria; Hyperammonemia; Increased total bilirubin; Increased tissue levels of triglycerides; Increased tissue levels of free fatty acids; Severely decreased palmitate oxidation; Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than
10% of normal) in multiple tissues; Absence of CPT II protein;